Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79	618559 C5231410	GABRA5	Unknown	—	Disgenet, HPO	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8	300607	ARHGEF9	Unknown	—	HPO	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events +1 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80	C5231418 618580	CCPG1	Unknown	—	Disgenet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80	C5231418 618580	PIGB	Unknown	—	Disgenet, HPO	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81	618663 C5231450	DMXL2	Unknown	—	Disgenet, HPO	Lysosome
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82	618721 C5231473	GOT2	Unknown	—	Disgenet, HPO	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Cysteine and methionine metabolism +13 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83	618744 C5231487	UGP2	Unknown	—	Disgenet, HPO	Pentose and glucuronate interconversions Galactose metabolism Starch and sucrose metabolism +7 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84	618792 C5394081	UGDH	Unknown	—	Disgenet, HPO	Pentose and glucuronate interconversions Ascorbate and aldarate metabolism Amino sugar and nucleotide sugar metabolism +5 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS	301044 C5393312	SMC1A	Unknown	—	Disgenet, HPO	Cell cycle Oocyte meiosis Separation of Sister Chromatids +5 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86	618910 C5394462	DALRD3	Unknown	—	Disgenet, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87	C5394501 618916	AMD1	Unknown	—	Disgenet	Cysteine and methionine metabolism Arginine and proline metabolism Metabolic pathways +1 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87	C5394501 618916	CDK19	Unknown	—	Disgenet, HPO	PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88	618959 C5394553	MDH1	Unknown	—	Disgenet, HPO	Citrate cycle (TCA cycle) Cysteine and methionine metabolism Pyruvate metabolism +5 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88	618959 C5394553	WDPCP	Unknown	—	Disgenet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9	300088 C1848137	PCDH19	Unknown	—	Disgenet, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90	301058 C5542345	FGF13	Unknown	—	Disgenet, HPO	Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92	C4693362	KMT2C	Unknown	—	Disgenet	Lysine degradation Metabolic pathways PKMTs methylate histone lysines +1 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93	C4693934 MONDO:0020632	ATP6V1B2	Unknown	25915598 29158550 31655144	Disgenet, GWAS catalog	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94	C3809278	CHRNA4	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Cholinergic synapse Nicotine addiction +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94	C3809278	SLC6A1	Unknown	—	Disgenet	Synaptic vesicle cycle GABAergic synapse Na+/Cl- dependent neurotransmitter transporters +1 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 95	618143 C4748357	PIGS	Unknown	—	Disgenet, HPO	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Attachment of GPI anchor to uPAR
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96	C5543446	LRRC37A2	Unknown	—	Disgenet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY WITH SPIKE-WAVE ACTIVATION IN SLEEP	725	GRIN2A	Unknown	23933818 23933819 23933820	Orphanet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +19 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 86	MONDO:0030054	DALRD3	Unknown	32427860	ClinVar, GWAS catalog	—
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	1934	CASK	Unknown	22709267 24278995	Orphanet	Dopamine Neurotransmitter Release Cycle Neurexins and neuroligins
		DMXL2	Unknown	31688942	Orphanet	Lysosome
		GRIN1	Unknown	34611970	Orphanet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +20 more
		GRM7	Unknown	34273994	Orphanet	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Glutamatergic synapse +2 more
		KCNA1	Unknown	30055040	Orphanet	Voltage gated Potassium channels
		PIGQ	Unknown	24463883	Orphanet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		TRIM8	Unknown	30244534	Orphanet	Interferon gamma signaling
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY	MONDO:0016021	GAD1	Unknown	1549570 15571623 20333300 28454995 30200754 31144778 32282878 32705143 9177246 9326630	Disgenet	Alanine, aspartate and glutamate metabolism beta-Alanine metabolism Taurine and hypotaurine metabolism +6 more
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	C0393706	ARHGEF15	Unknown	—	Disgenet	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
		ATP6V0C	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Lysosome +14 more
		CACNA2D1	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		CAMK2G	Unknown	—	Disgenet	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +44 more
		CASK	Unknown	—	Disgenet	Dopamine Neurotransmitter Release Cycle Neurexins and neuroligins
		CELSR1	Unknown	—	Disgenet	—
		CSNK1E	Unknown	—	Disgenet	FoxO signaling pathway Wnt signaling pathway Hedgehog signaling pathway +14 more
		DMXL2	Unknown	—	Disgenet	Lysosome
		FLNA	Unknown	—	Disgenet	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
		GABRA4	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		GABRG1	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +2 more
		GRIN1	Unknown	—	Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +20 more
		GRM7	Unknown	—	Disgenet	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Glutamatergic synapse +2 more
		GTF3C3	Unknown	—	Disgenet	RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter
		KCNA1	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNC2	Unknown	—	Disgenet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		MAGI2	Unknown	—	Disgenet	Rap1 signaling pathway PI3K-Akt signaling pathway
		PIGQ	Unknown	—	Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		SCN1A	Unknown	—	Disgenet	Dopaminergic synapse Phase 0 - rapid depolarisation
		ST7	Unknown	—	Disgenet	—
		TRIM8	Unknown	—	Disgenet	Interferon gamma signaling
		USP8	Unknown	—	Disgenet	Mitophagy - animal Endocytosis Cushing syndrome +4 more
EPILEPTIC ENCEPHALOPATHY	C0543888	ATP1A2	Unknown	—	Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +18 more
		AVEN	Unknown	—	Disgenet	Formation of apoptosome Regulation of the apoptosome activity
		EP300	Unknown	—	Disgenet	Polycomb repressive complex Viral life cycle - HIV-1 cAMP signaling pathway +66 more
		EPHA4	Unknown	—	Disgenet	Axon guidance EPH-Ephrin signaling EPHA-mediated growth cone collapse +1 more
		FASN	Unknown	—	Disgenet	Fatty acid biosynthesis Metabolic pathways Fatty acid metabolism +8 more
		GRIN2A	Unknown	—	Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +19 more
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	C3463992	CSNK1E	Unknown	—	Disgenet	FoxO signaling pathway Wnt signaling pathway Hedgehog signaling pathway +14 more
		GRIN1	Unknown	—	Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +20 more
		PCDH19	Unknown	—	Disgenet	—
		SCN1A	Unknown	—	Disgenet	Dopaminergic synapse Phase 0 - rapid depolarisation
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76	C5193113	SCN1A	Unknown	—	Disgenet	Dopaminergic synapse Phase 0 - rapid depolarisation
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	MONDO:0100062	ARHGEF15	Unknown	—	GenCC	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
		ATP6V0C	Unknown	—	GenCC	Oxidative phosphorylation Metabolic pathways Lysosome +14 more
		CACNA2D1	Unknown	—	GenCC	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		CAMK2G	Unknown	—	GenCC	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +44 more
		CASK	Unknown	24278995 22709267	GWAS catalog	Dopamine Neurotransmitter Release Cycle Neurexins and neuroligins
		CELSR1	Unknown	—	GenCC	—
		CSNK1E	Unknown	—	GenCC	FoxO signaling pathway Wnt signaling pathway Hedgehog signaling pathway +14 more
		DMXL2	Unknown	31688942	Disgenet	Lysosome
		FLNA	Unknown	23934111	HPO	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
		GABRA4	Unknown	194290026 27622563 35069119 35152403	GWAS catalog	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		GABRG1	Unknown	36121006	GWAS catalog	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +2 more
		GTF3C3	Unknown	—	GenCC	RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter
		KCNA1	Unknown	31586945	GWAS catalog	Voltage gated Potassium channels
		KCNC2	Unknown	11124984 31972370 35314505 35366058 36035247 36087422 36090251	Disgenet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		MAGI2	Unknown	18565486	Disgenet	Rap1 signaling pathway PI3K-Akt signaling pathway
		PIGQ	Unknown	24463883	GWAS catalog	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		SCN1A	Unknown	28794249 30779207	ClinGen, ClinVar	Dopaminergic synapse Phase 0 - rapid depolarisation
		ST7	Unknown	—	GenCC	—
		TRIM8	Unknown	30244534	Disgenet	Interferon gamma signaling
		USP8	Unknown	—	GenCC	Mitophagy - animal Endocytosis Cushing syndrome +4 more
HEMIPLEGIC MIGRAINE-DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY SPECTRUM	MONDO:0100539	ATP1A2	Unknown	12539047 15843000 16088919 18056581 21731499 2313342 24096472 24498617 33493807 33578253 33880529	ClinGen, GWAS catalog	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +18 more
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	442835 C5680057	ATP1A2	Unknown	33880529	Disgenet, Orphanet	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +18 more
		CACNA2D1	Unknown	35293990	Disgenet, Orphanet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		CDK19	Unknown	32330417	Disgenet, Orphanet	PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation
		DALRD3	Unknown	32427860	Disgenet, Orphanet	—
		FGF13	Unknown	—	Disgenet	Phase 0 - rapid depolarisation
		GABRA5	Unknown	31056671	Disgenet, Orphanet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		KCNC2	Unknown	35314505	Disgenet, Orphanet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		SCN1A	Unknown	24776920	Disgenet, Orphanet	Dopaminergic synapse Phase 0 - rapid depolarisation
OBSOLETE EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY	MONDO:0016021	GAD1	Unknown	—	ClinGen	Alanine, aspartate and glutamate metabolism beta-Alanine metabolism Taurine and hypotaurine metabolism +6 more
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	MONDO:0018614	CDK19	Unknown	32330417	GWAS catalog	PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation
		DALRD3	Unknown	32427860	GWAS catalog	—
		FGF13	Unknown	33245860	GWAS catalog	Phase 0 - rapid depolarisation
		GABRA5	Unknown	31056671	GWAS catalog	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more

«‹1 234 ›»

Developmental and epileptic encephalopathy

Bookmark This Disease